FANCB, FA complementation group B, 2187

N. diseases: 278; N. variants: 6
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 Biomarker disease GENOMICS_ENGLAND X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 26683739 2016
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 CausalMutation disease CLINVAR X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 21910217 2011
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 CausalMutation disease CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 CausalMutation disease CLINVAR Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 16679491 2006
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 CausalMutation disease CLINVAR X-linked inheritance of Fanconi anemia complementation group B. 15502827 2004
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 Biomarker disease GENOMICS_ENGLAND X-linked inheritance of Fanconi anemia complementation group B. 15502827 2004
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		0.600 Biomarker disease CTD_human